|OBO ID: DOID:0060453|
|Term Name:||Reis-Bucklers corneal dystrophy||Search Ontology:|
|Definition:||An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. https://www.omim.org/entry/608470|
|Ontology:||Human Disease (DOID:0060453)|
|is a type of:||
OTHER Reis-Bucklers corneal dystrophy PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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